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Chunk #12 — Results — Polygenic Architecture of ADHD

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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.
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To further characterize the patterns of heritability from the genome-wide association data, we partitioned SNP heritability by functional annotations as described in Finucane et al.40 using partitioned LD Score regression (Online Methods). The analysis revealed significant enrichment in the heritability from SNPs located in conserved regions (P = 8.49 × 10−10; Supplementary Figure 12), supporting their biological importance. Enrichment of the SNP heritabilty in cell-type-specific regulatory elements was evaluated using the cell-type-specific group annotations described in Finucane et al40. We observed a significant enrichment of the average per SNP heritability for variants located in central nervous system specific regulatory elements (enrichment = 2.44, SE = 0.35, P = 5.81 × 10−5; Supplementary Figures 13 and 14).